Orphanet: Hereditary diffuse gastric cancer

Search for a rare disease

* (*) mandatory field

Other search option(s)

Suggest an update

(*) Required fields.


Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Orphanet doesn't provide personalised answers. To get in touch with the Orphanet team, please contact

Information provided in your contribution (including your email address) will be stocked in .CSV files that will be sent as an email to Orphanet's teams. These emails might be conserved in the teams' mailboxes, in our backoffice servers but will not be registered in our databases (for more information see our section General Data Protection Regulation and data privacy (GDPR) and Confidentiality).

Captcha image

Hereditary diffuse gastric cancer

Disease definition

Hereditary diffuse gastric cancer is a rare epithelial tumor of the stomach, characterized by the development of diffuse (signet ring cell) gastric cancer at a young age, associated with germline heterozygous mutations of CDH1, MAP3K6 and CTNNA1 genes. In early stages it presents with non-specific and vague symptoms, in advanced stages it may cause nausea and vomiting, dysphagia, loss of appetite, abdominal mass or weight loss. Women have an increased risk of lobular breast cancer as well.


Classification level: Disorder
  • Synonym(s):
    • FDGC
    • Familial diffuse cancer of stomach
    • Familial diffuse gastric cancer
    • HDGC
    • Hereditary diffuse cancer of stomach
    • Hereditary diffuse gastric adenocarcinoma
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: C16.9
  • OMIM: 137215
  • UMLS: C1708349
  • MeSH: -
  • GARD: 10900
  • MedDRA: -

Detailed information

General public


Disease review articles

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.